Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

Item
http://www.wikidata.org/entity/Q30657823
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingClassification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrierFunctional characterization of BRCA1 gene variants by mini-gene splicing assay.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicCombined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.Functional Interaction Between and DNA Repair in Yeast May Uncover a Role of , and Somatic Variants in Cancer DevelopmentInvestigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA
P2860

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

Item
http://www.wikidata.org/entity/Q30657823
description
2013 nî lūn-bûn
@nan
2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@ast
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@en
type
label
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@ast
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@en
prefLabel
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@ast
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Evaluation of a 5-tier scheme ...... minimum reporting guidelines.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921